Illumina and University of Oxford to Sequence 500 Whole Human Genomes
for Rare Disease Research

Opportunity to Bring Personalized Medicine to the Forefront of
Healthcare

August 03, 2011 03:01 AM Eastern Daylight Time

SAN DIEGO--(BUSINESS WIRE)--Illumina, Inc. (NASDAQ:ILMN) today announced it will collaborate with
the University of Oxford to sequence the whole genomes of 500
individuals afflicted with a range of life-threatening diseases that
pose major challenges in diagnosis, treatment, and care. Illumina HiSeq™
2000 systems will be used to generate sequence data for the 500 genomes.

Clinicians and geneticists at Oxford will analyze the data generated by
Illumina’s technology to evaluate patients’ genomes in an effort to
identify mutations that may be validated, used to diagnose their
diseases, and inform potential treatment options. As a prelude to this
effort, the team solicited cases from the Oxford clinical community to
gain insight into the range of patients and diseases that might benefit
most directly from whole-genome sequencing. The project will focus
primarily on cancer, immunological disorders, and rare Mendelian
diseases, all involving mutations that would be difficult or impossible
to discover by standard genetic tests.

“This collaboration represents a remarkable and very important step
toward using whole-genome sequencing for translational medicine – where
a patient’s individual genetic information can be used to make key
healthcare decisions,” said David Bentley, Vice President and Chief
Scientist at Illumina. “We are excited to be working with Oxford on this
effort. This collaboration also will help Illumina advance its
technology to better meet the specific needs of clinical environments.”

The team believes that the collaboration will demonstrate the enormous
value that next-generation sequencing holds for clinical research, as it
empowers clinicians and geneticists to evaluate the genetic basis of
diseases with a previously unmatched level of precision. The
collaboration has already had its first exciting
breakthrough―information obtained by sequencing the genomes of a family
revealed a de novo genetic mutation hypothesized to be
responsible for a life-threatening cranial developmental defect in a
four-year–old girl. Oxford clinicians have been able to use the
whole-genome sequence information to identify mutations that, when
validated, enable them to properly diagnose the disorder, evaluate
potential healthcare options, and provide her family with genetic
counseling.

“This case demonstrates the great potential of next-generation
sequencing technology to elucidate the underlying genetic causes of
disorders that are difficult to diagnose,” said Professor Peter
Donnelly, Director of the Wellcome Trust Centre for Human Genetics at
the University of Oxford. “Our collaboration with Illumina, studying
over a hundred different diseases, will allow us to explore the value of
whole-genome sequencing in clinical medicine in informing diagnosis and
treatment decisions for patients. The initiative represents a crucial
step as we move towards a new healthcare paradigm in which genetic
information from next-generation sequencing is likely to become much
more widely used in routine medical practice.”

As part of the collaboration, Illumina will sequence 100 genomes at its
Chesterford site in the U.K. The remaining 400 genomes will be sequenced
using HiSeq 2000 systems at the Wellcome Trust Centre for Human Genetics
in Oxford.

Illumina (http://www.illumina.com)
is a leading developer, manufacturer, and marketer of life science tools
and integrated systems for the analysis of genetic variation and
function. We provide innovative sequencing and array-based solutions for
genotyping, copy number variation analysis, methylation studies, gene
expression profiling, and low-multiplex analysis of DNA, RNA, and
protein. We also provide tools and services that are fueling advances in
consumer genomics and diagnostics. Our technology and products
accelerate genetic analysis research and its application, paving the way
for molecular medicine and ultimately transforming healthcare.

Forward-Looking Statements

This release contains forward-looking statements that involve risks and
uncertainties, including statements we make regarding the ability of the
collaboration to demonstrate the value that next-generation sequencing
holds for clinical research. Important factors that could cause actual
results to differ materially from those in any forward-looking
statements are detailed in our filings with the Securities and Exchange
Commission, including our most recent filings on Forms 10-K and 10-Q, or
in information disclosed in public conference calls, the date and time
of which are released beforehand. We do not intend to update any
forward-looking statements after the date of this release.